Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_assertion> ?p ?o ?g. }
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- NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_assertion type Assertion NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_head.
- NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_assertion description "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_provenance.
- NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_assertion evidence source_evidence_literature NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_provenance.
- NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_assertion SIO_000772 14614393 NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_provenance.
- NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_assertion wasDerivedFrom befree-2016 NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_provenance.
- NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_assertion wasGeneratedBy ECO_0000203 NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_provenance.